Novel TBK1 LoF variant in a family with upper motor neuron predominant motor neuron disease
Amyotrophic lateral sclerosis (ALS) is usually sporadic, but 20% of European ancestry cases have a family history of ALS or frontotemporal dementia (FTD) [1]. More than 30 genes confer a higher risk for ALS, and C9orf72, TARDBP, SOD1 and FUS account for nearly 70% of all familial (fALS) cases [1]. Tank-binding kinase 1 (TBK1) is an established causal gene associated with 1% of fALS and/or FTD [2]. It codes for a multifunctional kinase involved in multiple cellular processes, such as neuroinflammation and autophagy [3].
Source: Journal of the Neurological Sciences - Category: Neurology Authors: M.R. Costa, M. Gromicho, A.C. Pronto-Laborinho, G. Miltenberger Milt ényi, M. de Carvalho Tags: Letter to the Editor Source Type: research